A diligent morphological examination to look for the presence of hairy cells along with flow cytometric immunophenotyping showing consistent bright expression of CD200 (zeige CD200 Antikörper), in addition to well-described characteristic immunophenotype, helps in correctly diagnosing the case. This can be further confirmed by the consistent presence of V600E point mutation in BRAF gene.

MET inactivation in the context of the BRAF-activating mutation is driven through a negative feedback loop involving inactivation of PP2A (zeige PPP2R4 Antikörper) phosphatase, which in turn leads to phosphorylation on MET inhibitory Ser985.

Using a conditional allele for Braf(V600E) , a mutation observed in clinical cases of GIST, authors observed that Braf(V600E) activation was sufficient to drive ICC hyperplasia but not GIST tumorigenesis.

BRAF Antigen-Profil

Beschreibung des Gens

This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene.